Article
Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.
Journal of immunology (Baltimore, Md. : 1950) - 15 Nov 2014
Yamazaki Yasuhiro, Yamada Masafumi, Kawai Toshinao, Morio Tomohiro, Onodera Masafumi, Ueki Masahiro, Watanabe Nobuyuki, Takada Hidetoshi, Takezaki Shunichiro, Chida Natsuko, Kobayashi Ichiro, Ariga Tadashi
Abstract excerpt
Heterozygous gain-of-function (GOF) mutations of STAT1 are responsible for chronic mucocutaneous candidiasis disease (CMCD), one of the primary immunodeficiency diseases characterized by susceptibility to mucocutaneous Candida infection. To date, 30 aa changes have been reported: 21 in the coiled-coil domain and 9 in the DNA-binding domain. In this study, we report two novel STAT1 GOF mutations of p.K278E in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.